Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer

March 4, 2022 updated by: Ambry Genetics

Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception

This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

118

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Burbank, California, United States, 91505
        • Providence Roy and Patricia Disney Family Cancer Center
      • Orange, California, United States, 92868
        • St Joseph Hospital of Orange
    • West Virginia
      • Huntington, West Virginia, United States, 25701
        • Edwards Comprehensive Cancer Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Probability Sample

Study Population

The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.

Description

Inclusion Criteria:

  • Female, age ≥ 18 years
  • Willing and able to provide meaningful informed consent
  • Willing and able to complete study procedures as described in this protocol
  • Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent
  • No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer
  • Meets Ambry criteria for clinical reporting of PRS score

Exclusion Criteria:

  • Prior germline BRCA1/2 testing
  • Not willing to receive PRS
  • Personal history of cancer, except non-melanoma skin cancer
  • Personal history of allogenic bone marrow/stem cell transplant

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in Breast Cancer Risk Management Recommendations
Time Frame: First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.
Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers.
First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ambry Genetics

Investigators

  • Study Director: Brigette Tippin-Davis, PhD, Ambry Genetics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 21, 2018

Primary Completion (Actual)

November 11, 2020

Study Completion (Actual)

November 11, 2020

Study Registration Dates

First Submitted

September 20, 2018

First Submitted That Met QC Criteria

September 26, 2018

First Posted (Actual)

September 28, 2018

Study Record Updates

Last Update Posted (Actual)

March 7, 2022

Last Update Submitted That Met QC Criteria

March 4, 2022

Last Verified

March 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SNP-17-001

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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